Linked Data
ClinVar Variation Id:
2817790
ClinVar RCV Id:
RCV003711417
dbSNP Id:
rs1392181924
gnomAD v2:
11-5247663-A-C
gnomAD v3:
11-5226433-A-C
gnomAD v4:
11-5226433-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226433A>C , CM000673.2:g.5226433A>C | GRCh38 |
| NC_000011.9:g.5247663A>C , CM000673.1:g.5247663A>C | GRCh37 |
| NC_000011.8:g.5204239A>C | NCBI36 |
| NG_000007.3:g.71183T>G | |
| NG_059281.1:g.5639T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315+144T>G | ENSP00000494175.1:n.315+144T>G | |
| ENST00000335295.4:c.315+144T>G MANE Select | ENSP00000333994.3:n.315+144T>G | |
| ENST00000475226.1:n.247+144T>G | ||
| ENST00000485743.1:n.510T>G | ||
| ENST00000633227.1:c.*131+144T>G | ENSP00000488004.1:n.*131+144T>G | |
| NM_000518.4:c.315+144T>G | NP_000509.1:n.315+144T>G | |
| NM_000518.5:c.315+144T>G MANE Select | NP_000509.1:n.315+144T>G |